Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Reid S., Schindler D., Hanenberg H., Barker K., Hanks S., Kalb R., ...Daha Fazla

NATURE GENETICS, cilt.39, sa.2, ss.162-164, 2007 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 2
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1038/ng1947
  • Dergi Adı: NATURE GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.162-164
  • Hacettepe Üniversitesi Adresli: Evet

Özet

PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA- D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 ( also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.